Incidental Mutation 'R4546:Atf7'
ID |
333792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atf7
|
Ensembl Gene |
ENSMUSG00000099083 |
Gene Name |
activating transcription factor 7 |
Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
MMRRC Submission |
041780-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4546 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102442762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 449
(V449A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184772]
[ENSMUST00000184906]
|
AlphaFold |
Q8R0S1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108828
|
SMART Domains |
Protein: ENSMUSP00000104456 Gene: ENSMUSG00000099083
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169033
|
SMART Domains |
Protein: ENSMUSP00000130130 Gene: ENSMUSG00000099083
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184485
AA Change: V449A
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000139308 Gene: ENSMUSG00000099083 AA Change: V449A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184616
AA Change: V449A
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000139181 Gene: ENSMUSG00000099083 AA Change: V449A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184772
|
SMART Domains |
Protein: ENSMUSP00000138975 Gene: ENSMUSG00000052414
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184906
|
SMART Domains |
Protein: ENSMUSP00000139243 Gene: ENSMUSG00000099083
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Meta Mutation Damage Score |
0.0732 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (65/67) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for one knock-out allele exhibit increased marble burying, increased startle response, and decreased prepulse inhibition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
G |
A |
14: 70,393,927 (GRCm39) |
S236L |
probably benign |
Het |
Ahcyl |
C |
T |
16: 45,974,330 (GRCm39) |
C349Y |
possibly damaging |
Het |
Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
Alpi |
T |
A |
1: 87,026,839 (GRCm39) |
Y413F |
probably damaging |
Het |
Asmt |
T |
C |
X: 169,110,230 (GRCm39) |
|
probably null |
Het |
Bnc2 |
A |
G |
4: 84,210,213 (GRCm39) |
F744L |
probably benign |
Het |
Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,941,159 (GRCm39) |
K21R |
probably damaging |
Het |
Cenpf |
A |
C |
1: 189,386,847 (GRCm39) |
L1811R |
probably damaging |
Het |
Cfap91 |
C |
T |
16: 38,155,885 (GRCm39) |
V113I |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,853,349 (GRCm39) |
I43T |
possibly damaging |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Cylc2 |
A |
T |
4: 51,229,840 (GRCm39) |
D394V |
unknown |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dcaf8 |
T |
C |
1: 172,007,460 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,494,971 (GRCm39) |
Q1343L |
probably damaging |
Het |
Dnajc21 |
T |
C |
15: 10,447,183 (GRCm39) |
R522G |
probably benign |
Het |
F2rl3 |
C |
T |
8: 73,489,211 (GRCm39) |
A146V |
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,786,993 (GRCm39) |
S57G |
probably damaging |
Het |
Gm5507 |
T |
A |
18: 54,117,409 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
Il21r |
A |
G |
7: 125,228,071 (GRCm39) |
R181G |
probably damaging |
Het |
Il5ra |
G |
T |
6: 106,715,459 (GRCm39) |
S125* |
probably null |
Het |
Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
Lepr |
T |
A |
4: 101,671,838 (GRCm39) |
I954N |
probably benign |
Het |
Lims1 |
T |
C |
10: 58,254,612 (GRCm39) |
|
probably benign |
Het |
Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
Muc15 |
T |
C |
2: 110,567,844 (GRCm39) |
S330P |
probably damaging |
Het |
Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
Nkd2 |
T |
C |
13: 73,971,475 (GRCm39) |
D187G |
probably benign |
Het |
Nphp1 |
C |
T |
2: 127,607,939 (GRCm39) |
|
probably null |
Het |
Or10ag59 |
T |
C |
2: 87,405,530 (GRCm39) |
F34S |
probably benign |
Het |
Or1e19 |
T |
C |
11: 73,316,012 (GRCm39) |
N266D |
probably benign |
Het |
Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
Pdhx |
A |
T |
2: 102,903,742 (GRCm39) |
L18Q |
probably null |
Het |
Pear1 |
C |
T |
3: 87,661,968 (GRCm39) |
G469D |
probably damaging |
Het |
Plec |
T |
C |
15: 76,065,757 (GRCm39) |
T1506A |
probably benign |
Het |
Plod3 |
T |
A |
5: 137,017,801 (GRCm39) |
D192E |
possibly damaging |
Het |
Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,166 (GRCm39) |
D583G |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,809,841 (GRCm39) |
Y1079C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
Vcp |
T |
C |
4: 42,988,813 (GRCm39) |
|
probably benign |
Het |
Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,230,729 (GRCm39) |
E878G |
probably damaging |
Het |
Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
Het |
|
Other mutations in Atf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01914:Atf7
|
APN |
15 |
102,459,913 (GRCm39) |
nonsense |
probably null |
|
R2183:Atf7
|
UTSW |
15 |
102,454,908 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2516:Atf7
|
UTSW |
15 |
102,437,439 (GRCm39) |
intron |
probably benign |
|
R3114:Atf7
|
UTSW |
15 |
102,442,858 (GRCm39) |
missense |
probably benign |
0.10 |
R3115:Atf7
|
UTSW |
15 |
102,442,858 (GRCm39) |
missense |
probably benign |
0.10 |
R4544:Atf7
|
UTSW |
15 |
102,442,762 (GRCm39) |
missense |
probably benign |
0.08 |
R4545:Atf7
|
UTSW |
15 |
102,442,762 (GRCm39) |
missense |
probably benign |
0.08 |
R5148:Atf7
|
UTSW |
15 |
102,455,608 (GRCm39) |
missense |
probably benign |
0.02 |
R5568:Atf7
|
UTSW |
15 |
102,471,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R5688:Atf7
|
UTSW |
15 |
102,459,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R5805:Atf7
|
UTSW |
15 |
102,466,022 (GRCm39) |
splice site |
probably null |
|
R6021:Atf7
|
UTSW |
15 |
102,465,908 (GRCm39) |
missense |
probably benign |
0.20 |
R6259:Atf7
|
UTSW |
15 |
102,455,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Atf7
|
UTSW |
15 |
102,454,914 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6476:Atf7
|
UTSW |
15 |
102,502,147 (GRCm39) |
missense |
probably benign |
0.13 |
R6794:Atf7
|
UTSW |
15 |
102,465,900 (GRCm39) |
missense |
probably benign |
0.09 |
R7104:Atf7
|
UTSW |
15 |
102,442,670 (GRCm39) |
missense |
probably benign |
0.40 |
R7369:Atf7
|
UTSW |
15 |
102,462,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R8111:Atf7
|
UTSW |
15 |
102,471,769 (GRCm39) |
missense |
probably damaging |
0.96 |
R8244:Atf7
|
UTSW |
15 |
102,437,301 (GRCm39) |
missense |
unknown |
|
R8768:Atf7
|
UTSW |
15 |
102,449,324 (GRCm39) |
missense |
probably benign |
0.06 |
R8785:Atf7
|
UTSW |
15 |
102,454,974 (GRCm39) |
missense |
probably benign |
|
R8811:Atf7
|
UTSW |
15 |
102,502,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R9211:Atf7
|
UTSW |
15 |
102,437,117 (GRCm39) |
missense |
unknown |
|
R9408:Atf7
|
UTSW |
15 |
102,462,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9446:Atf7
|
UTSW |
15 |
102,459,923 (GRCm39) |
missense |
probably damaging |
0.96 |
R9564:Atf7
|
UTSW |
15 |
102,442,712 (GRCm39) |
missense |
probably benign |
|
X0027:Atf7
|
UTSW |
15 |
102,502,105 (GRCm39) |
critical splice donor site |
probably null |
|
Z1088:Atf7
|
UTSW |
15 |
102,455,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATTCTGCCCAATTCCAAG -3'
(R):5'- TGACAAAGAAGAGTCCTTTCTGTTC -3'
Sequencing Primer
(F):5'- ACAGGAGGGGTTAAGTTGATCTCTC -3'
(R):5'- AAAGAAGAGTCCTTTCTGTTCCTCTG -3'
|
Posted On |
2015-08-18 |